Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, et al. Orphanet J Rare Dis. 2022 Mar 3; 17(1):97. Epub 2022 Mar 3.